hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to arachidonoylcholine

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of arachidonoylcholine
Metabolite Accession: GCST90200086
Name: arachidonoylcholine
Hmdb Id: HMDB0240583
Super Pathway: NA
Sub Pathway: NA
Inchikey: NJSSWIYQGNCVTH

Associated Genomic Regions

Region: rs99780

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.470
Position:
61596633
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
20.749
Reference Allele:
C
-log10(P):
-218.514
MAF:
0.346
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.193
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid (PUFA) metabolism.1[1], 2[2], 7[3]

Ratio Explanation:

The ratio reflects FADS enzyme activity, contrasting sphingolipid metabolism (numerator) with FADS-mediated synthesis of arachidonic acid (denominator precursor).1[1], 3[2], 4[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid synthesis, affecting the ratio.1[1], 3[2] This change in lipid balance plausibly contributes to phenotypes like hypercholesterolemia, asthma, and cholelithiasis by modifying inflammatory pathways and lipid metabolism.8[3], 9[4], 7[5], 10[6], 11[7], 12[8], 13[9]

Phenotype Driver:

Gene-centric:FADS1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data